MCID: CWD001
MIFTS: 67

Cowden Disease

Categories: Rare diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Cowden Disease

MalaCards integrated aliases for Cowden Disease:

Name: Cowden Disease 12 53 25 59 55 15
Cowden Syndrome 76 53 25 59 37 29 6 40
Lhermitte-Duclos Disease 12 53 29 6 73
Multiple Hamartoma Syndrome 12 53 25 59
Cowden's Disease 76 53 25
Hamartoma Syndrome, Multiple 44 73
Mham 53 25
Cs 53 25
Cd 53 25
Dysplastic Gangliocytoma of the Cerebellum 53
Dysplastic Gangliocytoma of Cerebellum 12
Cowden's Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
cowden syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Cowden Disease

NIH Rare Diseases : 53 Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People who have Cowden syndrome are at an increased risk of developing certain types of cancer, such as breast, thyroid, and endometrial (lining of the uterus) cancer. Most cases are caused by mutations in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes screening for associated tumors and/or prophylactic surgeries.

MalaCards based summary : Cowden Disease, also known as cowden syndrome, is related to cowden syndrome 1 and juvenile polyposis syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Disease is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are abnormality of the penis and macroglossia

Disease Ontology : 12 An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.

Genetics Home Reference : 25 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia : 76 Cowden syndrome (also known as Cowden\'s disease and multiple hamartoma syndrome) is an autosomal... more...

Related Diseases for Cowden Disease

Diseases in the Cowden Disease family:

Cowden Syndrome 1 Cowden Syndrome 2
Cowden Syndrome 3 Cowden Syndrome 4
Cowden Syndrome 5 Cowden Syndrome 6
Cowden Syndrome 7

Diseases related to Cowden Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.6 KLLN PTEN
2 juvenile polyposis syndrome 32.1 BMPR1A PTEN SMAD4 STK11
3 lipomatosis 31.0 PIK3CA PTEN SDHB
4 follicular adenoma 30.3 CALCA PTEN RET
5 bannayan-riley-ruvalcaba syndrome 30.1 BMPR1A CDKN3 PTEN TNS1
6 sporadic breast cancer 30.1 BRCA1 BRCA2 PTEN
7 proteus syndrome 29.9 AKT1 CDKN3 PIK3CA PTEN TNS1
8 thyroid cancer 29.6 AKT1 CALCA PIK3CA PTEN RET
9 peutz-jeghers syndrome 29.3 BRCA2 PTEN SMAD4 STK11 TSC2
10 breast cancer 27.7 AKT1 BMPR1A BRCA1 BRCA2 KLLN MIR21
11 colorectal cancer 26.8 AKT1 BRCA1 BRCA2 MIR19A MIR21 PIK3CA
12 cockayne syndrome 11.7
13 chanarin-dorfman syndrome 11.5
14 epilepsy occipital calcifications 11.4
15 castleman disease 11.3
16 chromosome 10q22.3-q23.2 deletion syndrome 11.2 BMPR1A PTEN
17 conduct disorder 11.2
18 chromosome 10q23 deletion syndrome 11.1 BMPR1A PTEN
19 thyroid hurthle cell adenoma 11.0 PIK3CA PTEN
20 rare adenocarcinoma of the breast 10.9 AKT1 PIK3CA
21 pten hamartoma tumor syndrome 10.8 KLLN PTEN
22 gastric cancer 10.8
23 megalencephaly 10.8 PIK3CA PTEN STK11
24 macrocephaly/autism syndrome 10.8 KLLN PTEN
25 hereditary site-specific ovarian cancer syndrome 10.7 BRCA1 BRCA2
26 testicular germ cell tumor 10.7 AKT1 PTEN STK11
27 neural crest tumor 10.7 SDHB SDHC SDHD
28 anaplastic thyroid cancer 10.7 MIR19A PIK3CA PTEN
29 respiratory system cancer 10.7 AKT1 PIK3CA PTEN STK11
30 paragangliomas 1 10.7 SDHB SDHC SDHD
31 extra-adrenal pheochromocytoma 10.6 SDHB SDHC SDHD
32 chondroma 10.6 SDHB SDHC SDHD
33 paraganglioma and gastric stromal sarcoma 10.6 SDHB SDHC SDHD
34 persistent generalized lymphadenopathy 10.6 SDHB SDHC SDHD
35 carney triad 10.6 SDHB SDHC SDHD
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6 PTEN STK11 TSC2
37 lymph node disease 10.6 SDHB SDHC SDHD
38 mitochondrial complex ii deficiency 10.6 SDHB SDHC SDHD
39 lymphatic system disease 10.6 SDHB SDHC SDHD
40 breast reconstruction 10.6 BRCA1 BRCA2
41 tuberculous salpingitis 10.6 BRCA1 BRCA2
42 nosophobia 10.5 BRCA1 BRCA2
43 synchronous bilateral breast carcinoma 10.5 BRCA1 BRCA2 PTEN
44 cancerophobia 10.5 BRCA1 BRCA2
45 familial colorectal cancer type x 10.5 BMPR1A BRCA2 SMAD4
46 adult hepatocellular carcinoma 10.5 PIK3CA TSC2
47 clear cell adenofibroma 10.5 BRCA1 BRCA2 PIK3CA
48 esophagus adenocarcinoma 10.5 MIR21 PIK3CA SMAD4
49 suppression of tumorigenicity 12 10.4 AKT1 PIK3CA PTEN SMAD4
50 gastrointestinal system cancer 10.4 AKT1 PIK3CA PTEN SMAD4

Graphical network of the top 20 diseases related to Cowden Disease:



Diseases related to Cowden Disease

Symptoms & Phenotypes for Cowden Disease

Human phenotypes related to Cowden Disease:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the penis 59 32 frequent (33%) Frequent (79-30%) HP:0000036
2 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
5 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
9 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
10 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
11 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
12 goiter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000853
13 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
14 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
15 cavernous hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001048
16 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
17 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
18 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
19 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
20 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
21 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
22 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
23 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
24 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
25 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
26 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
27 meningioma 59 32 frequent (33%) Frequent (79-30%) HP:0002858
28 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
29 breast carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003002
30 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
31 hamartomatous polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0004390
32 cellular immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005374
33 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
34 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
35 follicular thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006731
36 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
37 enlarged polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0008675
38 adenoma sebaceum 59 32 frequent (33%) Frequent (79-30%) HP:0009720
39 lipoma 59 32 frequent (33%) Frequent (79-30%) HP:0012032
40 bone cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0012062
41 endometrial carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012114
42 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
43 papilloma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012740
44 neoplasm of the thyroid gland 59 32 frequent (33%) Occasional (29-5%) HP:0100031
45 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
46 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
47 conjunctival hamartoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100780
48 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
49 colorectal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200063
50 abnormality of the kidney 59 Occasional (29-5%)

UMLS symptoms related to Cowden Disease:


seizures, action tremor, cerebellar ataxia

GenomeRNAi Phenotypes related to Cowden Disease according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.77 PIK3CA
2 Decreased viability GR00221-A-1 10.77 BMPR1A AKT1 PIK3CA RET SDHD
3 Decreased viability GR00221-A-2 10.77 BMPR1A AKT1 BRCA1 PIK3CA RET SDHD
4 Decreased viability GR00221-A-3 10.77 BMPR1A AKT1 BRCA1
5 Decreased viability GR00221-A-4 10.77 BMPR1A AKT1 PIK3CA RET SDHD
6 Decreased viability GR00231-A 10.77 RET
7 Decreased viability GR00301-A 10.77 BRCA1 RET
8 Decreased viability GR00381-A-1 10.77 SDHD
9 Decreased viability GR00402-S-2 10.77 BMPR1A AKT1 BRCA1 PIK3CA RET SDHD
10 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 PTEN SMAD4
11 Increased cell viability after pRB stimulation GR00230-A-1 9.26 AKT1 BMPR1A RET STK11
12 Increased mitotic index GR00110-A-0 9.1 BMPR1A RET SMAD4 STK11 TNS1 SDHD

MGI Mouse Phenotypes related to Cowden Disease:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 TSC2 STK11 TNS1 AKT1 BRCA1 BMPR1A
2 cellular MP:0005384 10.38 TSC2 STK11 TNS1 AKT1 BRCA1 BMPR1A
3 cardiovascular system MP:0005385 10.35 STK11 TNS1 TSC2 AKT1 BRCA1 BMPR1A
4 endocrine/exocrine gland MP:0005379 10.35 TSC2 STK11 AKT1 BRCA1 BMPR1A BRCA2
5 homeostasis/metabolism MP:0005376 10.34 TSC2 STK11 AKT1 BRCA1 BMPR1A BRCA2
6 hematopoietic system MP:0005397 10.32 TSC2 STK11 AKT1 BRCA1 BMPR1A BRCA2
7 growth/size/body region MP:0005378 10.3 TSC2 STK11 BMPR1A AKT1 BRCA1 BRCA2
8 embryo MP:0005380 10.29 STK11 TSC2 AKT1 BRCA1 BMPR1A BRCA2
9 mortality/aging MP:0010768 10.28 TSC2 STK11 BMPR1A AKT1 BRCA1 BRCA2
10 immune system MP:0005387 10.22 STK11 TNS1 SMAD4 BMPR1A AKT1 BRCA1
11 neoplasm MP:0002006 10.15 TSC2 STK11 AKT1 BRCA1 BMPR1A BRCA2
12 integument MP:0010771 10.11 TSC2 STK11 BMPR1A AKT1 BRCA1 BRCA2
13 digestive/alimentary MP:0005381 10.1 STK11 SMAD4 BRCA1 BRCA2 PTEN RET
14 nervous system MP:0003631 10.06 TSC2 STK11 SMAD4 BMPR1A AKT1 BRCA1
15 normal MP:0002873 10.03 STK11 TSC2 AKT1 BRCA1 BMPR1A BRCA2
16 muscle MP:0005369 10.01 STK11 BMPR1A AKT1 BRCA1 PTEN PIK3CA
17 renal/urinary system MP:0005367 9.76 TSC2 STK11 TNS1 BRCA1 PTEN SDHB
18 reproductive system MP:0005389 9.7 TSC2 STK11 TNS1 AKT1 BRCA1 BMPR1A
19 respiratory system MP:0005388 9.17 STK11 BMPR1A AKT1 BRCA1 PTEN RET

Drugs & Therapeutics for Cowden Disease

Drugs for Cowden Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4 Fluorodeoxyglucose F18 Phase 2
5 Anti-Bacterial Agents Phase 2
6 Antibiotics, Antitubercular Phase 2
7 Immunosuppressive Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Antifungal Agents Phase 2
10 Radiopharmaceuticals Phase 2
11
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2 sirolimus
2 A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
3 A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
4 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
5 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518

Search NIH Clinical Center for Cowden Disease

Cochrane evidence based reviews: hamartoma syndrome, multiple

Genetic Tests for Cowden Disease

Genetic tests related to Cowden Disease:

# Genetic test Affiliating Genes
1 Cowden Syndrome 29
2 Lhermitte-Duclos Disease 29

Anatomical Context for Cowden Disease

MalaCards organs/tissues related to Cowden Disease:

41
Breast, Thyroid, Cerebellum, Uterus, Skin, Kidney, Tongue

Publications for Cowden Disease

Articles related to Cowden Disease:

(show top 50) (show all 193)
# Title Authors Year
1
Arteriovenous malformation in the sigmoid colon of a patient with Cowden disease treated with laparoscopy: a case report. ( 29636101 )
2018
2
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
3
Cowden Syndrome Associated with Severe Periodontal Disease: A Short Literature Review and a Case Report. ( 29946579 )
2018
4
Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. ( 29380000 )
2018
5
Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells. ( 28164237 )
2017
6
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. ( 28677221 )
2017
7
Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review. ( 27886412 )
2017
8
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
9
Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma. ( 28868283 )
2017
10
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. ( 28513612 )
2017
11
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
12
An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis. ( 27168869 )
2016
13
A clinicopathological study of the oral lesions of Cowden disease. ( 27889943 )
2016
14
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect-PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. ( 26975628 )
2016
15
Embolosclerotherapy by the Transvenous Approach for Lower Extremity Arteriovenous Malformation in Cowden Syndrome: A Case Report. ( 27087878 )
2016
16
Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report. ( 26678657 )
2016
17
Breast Cancer and Non-Hodgkin Lymphoma in a Young Male with Cowden Syndrome. ( 26468640 )
2016
18
Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. ( 26798346 )
2015
19
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. ( 25549896 )
2015
20
Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome. ( 26448889 )
2015
21
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. ( 26522472 )
2015
22
Ewing Sarcoma in a Patient With Cowden Syndrome. ( 26553762 )
2015
23
Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF Pathways. ( 26488716 )
2015
24
Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. ( 25725225 )
2015
25
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. ( 25756585 )
2015
26
TESTICULAR LIPOMATOSIS IN COWDEN DISEASE. ( 27004353 )
2015
27
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. ( 26185318 )
2015
28
Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance. ( 25846706 )
2015
29
KLLN epigenotype-phenotype associations in Cowden syndrome. ( 25669429 )
2015
30
Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation. ( 25149476 )
2015
31
Cowden syndrome presenting as breast cancer: imaging and clinical features. ( 25246819 )
2014
32
Systemic mastocytosis in a patient with Cowden syndrome. ( 25059215 )
2014
33
Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. ( 24712574 )
2014
34
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24899679 )
2014
35
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. ( 24778394 )
2014
36
Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. ( 24609522 )
2014
37
Cowden syndrome complicated by a gastrointestinal stromal tumor. ( 24118605 )
2013
38
Novel mutation identified in Cowden syndrome presenting as a gastric adenocarcinoma. ( 24099866 )
2013
39
Corneal confocal microscopy anomalies associated with cowden syndrome: a case report. ( 24019790 )
2013
40
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. ( 23619277 )
2013
41
Phosphatase and tensin homolog immunohistochemical staining and clinical criteria for Cowden syndrome in patients with trichilemmoma or associated lesions. ( 23715080 )
2013
42
A Papillary Thyroid Tumor Detected by (18)F-FDG-PET/CT in a Pediatric Patient with Cowden Syndrome. ( 24900098 )
2013
43
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24136893 )
2013
44
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. ( 23680687 )
2013
45
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. ( 23475934 )
2013
46
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. ( 23764071 )
2013
47
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. ( 24136892 )
2013
48
Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy. ( 21960672 )
2012
49
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
50
Should patients with Cowden syndrome undergo prophylactic thyroidectomy? ( 23158187 )
2012

Variations for Cowden Disease

ClinVar genetic disease variations for Cowden Disease:

6
(show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
2 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh38 Chromosome 10, 87933228: 87933228
3 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
4 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh38 Chromosome 10, 87933094: 87933094
5 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
6 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh38 Chromosome 10, 87933165: 87933165
7 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
8 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
9 PIK3CA NM_006218.3(PIK3CA): c.363C> T (p.Ile121=) single nucleotide variant Benign rs115746478 GRCh37 Chromosome 3, 178917488: 178917488
10 PIK3CA NM_006218.3(PIK3CA): c.363C> T (p.Ile121=) single nucleotide variant Benign rs115746478 GRCh38 Chromosome 3, 179199700: 179199700
11 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh38 Chromosome 10, 87894063: 87894063
12 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh37 Chromosome 10, 89653820: 89653820
13 PTEN NM_000314.6(PTEN): c.344A> G (p.Asp115Gly) single nucleotide variant Likely pathogenic rs869312775 GRCh38 Chromosome 10, 87933103: 87933103
14 PTEN NM_000314.6(PTEN): c.344A> G (p.Asp115Gly) single nucleotide variant Likely pathogenic rs869312775 GRCh37 Chromosome 10, 89692860: 89692860
15 PTEN NM_000314.6(PTEN): c.408T> G (p.Cys136Trp) single nucleotide variant Likely pathogenic rs869312776 GRCh38 Chromosome 10, 87933167: 87933167
16 PTEN NM_000314.6(PTEN): c.408T> G (p.Cys136Trp) single nucleotide variant Likely pathogenic rs869312776 GRCh37 Chromosome 10, 89692924: 89692924
17 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh38 Chromosome 10, 87933183: 87933183
18 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh37 Chromosome 10, 89692940: 89692940
19 PTEN NM_000314.6(PTEN): c.486C> G (p.Asp162Glu) single nucleotide variant Likely pathogenic rs869312777 GRCh38 Chromosome 10, 87933245: 87933245
20 PTEN NM_000314.6(PTEN): c.486C> G (p.Asp162Glu) single nucleotide variant Likely pathogenic rs869312777 GRCh37 Chromosome 10, 89693002: 89693002
21 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh38 Chromosome 10, 87957985: 87957986
22 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh37 Chromosome 10, 89717742: 89717743
23 RINT1 NM_021930.5(RINT1): c.330A> G (p.Ala110=) single nucleotide variant Likely benign rs374658950 GRCh38 Chromosome 7, 105542464: 105542464
24 RINT1 NM_021930.5(RINT1): c.330A> G (p.Ala110=) single nucleotide variant Likely benign rs374658950 GRCh37 Chromosome 7, 105182911: 105182911
25 RINT1 NM_021930.5(RINT1): c.1447A> G (p.Met483Val) single nucleotide variant Uncertain significance rs869312982 GRCh38 Chromosome 7, 105551683: 105551683
26 RINT1 NM_021930.5(RINT1): c.1447A> G (p.Met483Val) single nucleotide variant Uncertain significance rs869312982 GRCh37 Chromosome 7, 105192130: 105192130
27 RINT1 NM_021930.5(RINT1): c.1671_1671+2delTGT deletion Uncertain significance rs869312981 GRCh37 Chromosome 7, 105195674: 105195676
28 RINT1 NM_021930.5(RINT1): c.1671_1671+2delTGT deletion Uncertain significance rs869312981 GRCh38 Chromosome 7, 105555227: 105555229
29 PIK3CA NM_006218.3(PIK3CA): c.*29T> C single nucleotide variant Benign rs141178472 GRCh37 Chromosome 3, 178952181: 178952181
30 PIK3CA NM_006218.3(PIK3CA): c.*29T> C single nucleotide variant Benign rs141178472 GRCh38 Chromosome 3, 179234393: 179234393
31 PIK3CA NM_006218.3(PIK3CA): c.1747-9C> T single nucleotide variant Likely benign rs201779641 GRCh37 Chromosome 3, 178937350: 178937350
32 PIK3CA NM_006218.3(PIK3CA): c.1747-9C> T single nucleotide variant Likely benign rs201779641 GRCh38 Chromosome 3, 179219562: 179219562
33 PIK3CA NM_006218.3(PIK3CA): c.1056T> C (p.Asp352=) single nucleotide variant Likely benign rs1131681 GRCh37 Chromosome 3, 178921574: 178921574
34 PIK3CA NM_006218.3(PIK3CA): c.1056T> C (p.Asp352=) single nucleotide variant Likely benign rs1131681 GRCh38 Chromosome 3, 179203786: 179203786
35 PIK3CA NM_006218.3(PIK3CA): c.1490A> G (p.Asn497Ser) single nucleotide variant Uncertain significance rs753879573 GRCh37 Chromosome 3, 178928304: 178928304
36 PIK3CA NM_006218.3(PIK3CA): c.1490A> G (p.Asn497Ser) single nucleotide variant Uncertain significance rs753879573 GRCh38 Chromosome 3, 179210516: 179210516
37 PIK3CA NM_006218.3(PIK3CA): c.2016-3T> C single nucleotide variant Uncertain significance rs879254354 GRCh37 Chromosome 3, 178938771: 178938771
38 PIK3CA NM_006218.3(PIK3CA): c.2016-3T> C single nucleotide variant Uncertain significance rs879254354 GRCh38 Chromosome 3, 179220983: 179220983
39 PIK3CA NM_006218.3(PIK3CA): c.213A> G (p.Val71=) single nucleotide variant Likely benign rs879254355 GRCh37 Chromosome 3, 178916826: 178916826
40 PIK3CA NM_006218.3(PIK3CA): c.213A> G (p.Val71=) single nucleotide variant Likely benign rs879254355 GRCh38 Chromosome 3, 179199038: 179199038
41 PIK3CA NM_006218.3(PIK3CA): c.2181A> T (p.Thr727=) single nucleotide variant Benign rs116336243 GRCh37 Chromosome 3, 178938939: 178938939
42 PIK3CA NM_006218.3(PIK3CA): c.2181A> T (p.Thr727=) single nucleotide variant Benign rs116336243 GRCh38 Chromosome 3, 179221151: 179221151
43 PIK3CA NM_006218.3(PIK3CA): c.2295-8T> C single nucleotide variant Likely benign rs754640150 GRCh37 Chromosome 3, 178942480: 178942480
44 PIK3CA NM_006218.3(PIK3CA): c.2295-8T> C single nucleotide variant Likely benign rs754640150 GRCh38 Chromosome 3, 179224692: 179224692
45 PIK3CA NM_006218.3(PIK3CA): c.2298T> G (p.Leu766=) single nucleotide variant Benign rs116164892 GRCh37 Chromosome 3, 178942491: 178942491
46 PIK3CA NM_006218.3(PIK3CA): c.2298T> G (p.Leu766=) single nucleotide variant Benign rs116164892 GRCh38 Chromosome 3, 179224703: 179224703
47 PIK3CA NM_006218.3(PIK3CA): c.2985C> T (p.Ala995=) single nucleotide variant Conflicting interpretations of pathogenicity rs201884756 GRCh37 Chromosome 3, 178951930: 178951930
48 PIK3CA NM_006218.3(PIK3CA): c.2985C> T (p.Ala995=) single nucleotide variant Conflicting interpretations of pathogenicity rs201884756 GRCh38 Chromosome 3, 179234142: 179234142
49 PIK3CA NM_006218.3(PIK3CA): c.361A> G (p.Ile121Val) single nucleotide variant Uncertain significance rs371727887 GRCh37 Chromosome 3, 178917486: 178917486
50 PIK3CA NM_006218.3(PIK3CA): c.361A> G (p.Ile121Val) single nucleotide variant Uncertain significance rs371727887 GRCh38 Chromosome 3, 179199698: 179199698

Expression for Cowden Disease

Search GEO for disease gene expression data for Cowden Disease.

Pathways for Cowden Disease

Pathways related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 AKT1 BRCA1 PIK3CA PTEN STK11 TSC2
2 12.72 AKT1 BRCA2 PIK3CA PTEN RET SMAD4
3
Show member pathways
12.64 AKT1 BRCA1 BRCA2 PIK3CA PTEN TSC2
4
Show member pathways
12.62 AKT1 BRCA1 BRCA2 PIK3CA PTEN SMAD4
5
Show member pathways
12.61 AKT1 BRCA2 PIK3CA PTEN RET SMAD4
6 12.43 BRCA1 MIR19A MIR21 PIK3CA PTEN
7
Show member pathways
12.4 AKT1 PIK3CA PTEN STK11 TSC2
8
Show member pathways
12.39 AKT1 PIK3CA STK11 TSC2
9
Show member pathways
12.37 AKT1 PIK3CA STK11 TSC2
10
Show member pathways
12.32 BRCA1 MIR19A PTEN TSC2
11 12.11 AKT1 PIK3CA PTEN TSC2
12 12.1 AKT1 PIK3CA PTEN TSC2
13
Show member pathways
12.07 AKT1 PIK3CA STK11 TSC2
14
Show member pathways
12.04 AKT1 PIK3CA PTEN TSC2
15 12.01 AKT1 BMPR1A PIK3CA SMAD4
16
Show member pathways
11.95 AKT1 PIK3CA PTEN TSC2
17 11.87 AKT1 PIK3CA PTEN SMAD4
18 11.85 AKT1 PIK3CA SMAD4
19 11.82 AKT1 PIK3CA PTEN
20
Show member pathways
11.79 AKT1 PIK3CA PTEN SMAD4 STK11
21 11.77 AKT1 PTEN TSC2
22
Show member pathways
11.75 AKT1 PIK3CA RET
23 11.72 AKT1 PIK3CA PTEN TSC2
24 11.69 AKT1 BRCA1 PIK3CA
25 11.69 AKT1 PIK3CA SEC23B
26 11.69 AKT1 BRCA1 PTEN SMAD4
27 11.66 AKT1 PIK3CA PTEN STK11 TSC2
28 11.6 BRCA1 SMAD4 TSC2
29 11.54 AKT1 PIK3CA PTEN
30 11.54 AKT1 PIK3CA PTEN
31 11.52 AKT1 BRCA1 PIK3CA PTEN
32 11.51 AKT1 PIK3CA STK11
33 11.49 AKT1 BRCA1 SMAD4
34 11.48 AKT1 PIK3CA PTEN RET
35 11.44 AKT1 BRCA1 PTEN
36 11.41 AKT1 BMPR1A BRCA1 BRCA2 PTEN SMAD4
37 11.38 SMAD4 STK11 TSC2
38 10.73 AKT1 PIK3CA PTEN TSC2

GO Terms for Cowden Disease

Cellular components related to Cowden Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD
3 cytoplasm GO:0005737 10 AKT1 BRCA1 BRCA2 CALCA CDKN3 MIR21

Biological processes related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 AKT1 BMPR1A CALCA PIK3CA RET STK11
2 positive regulation of transcription, DNA-templated GO:0045893 9.97 AKT1 BMPR1A BRCA1 BRCA2 RET SMAD4
3 positive regulation of gene expression GO:0010628 9.93 AKT1 BRCA1 MIR21 PTEN RET
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.81 BMPR1A MIR21 SMAD4
5 BMP signaling pathway GO:0030509 9.8 BMPR1A MIR21 SMAD4
6 activation of protein kinase activity GO:0032147 9.78 CALCA PIK3CA STK11
7 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.74 MIR21 PTEN SMAD4
8 cell cycle arrest GO:0007050 9.73 CDKN3 KLLN STK11 TSC2
9 negative regulation of protein kinase B signaling GO:0051898 9.72 AKT1 PTEN TSC2
10 negative regulation of cardiac muscle hypertrophy GO:0010614 9.64 MIR21 SMAD4
11 negative regulation of cell proliferation GO:0008285 9.63 CDKN3 MIR21 PTEN SMAD4 STK11 TSC2
12 negative regulation of macroautophagy GO:0016242 9.62 AKT1 PIK3CA
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.61 AKT1 TSC2
14 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.6 PTEN TSC2
15 positive regulation of SMAD protein signal transduction GO:0060391 9.59 BMPR1A SMAD4
16 regulation of protein kinase B signaling GO:0051896 9.58 MIR21 STK11
17 negative regulation of cell size GO:0045792 9.58 AKT1 PTEN
18 cellular response to nerve growth factor stimulus GO:1990090 9.58 AKT1 CALCA PTEN
19 positive regulation of histone H3-K9 acetylation GO:2000617 9.56 BRCA1 SMAD4
20 tricarboxylic acid cycle GO:0006099 9.54 SDHB SDHC SDHD
21 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.52 SDHC SDHD
22 endothelial cell migration GO:0043542 9.5 CALCA PIK3CA PTEN
23 chordate embryonic development GO:0043009 9.48 BRCA1 BRCA2
24 cellular response to decreased oxygen levels GO:0036294 9.46 AKT1 PTEN
25 vasculature development GO:0001944 9.43 CALCA PIK3CA STK11
26 protein kinase B signaling GO:0043491 9.26 AKT1 PIK3CA PTEN TSC2
27 anoikis GO:0043276 8.92 AKT1 PIK3CA STK11 TSC2
28 nervous system development GO:0007399 10.03 AKT1 BMPR1A PTEN RET STK11

Molecular functions related to Cowden Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 SDHB SDHC SDHD
2 ubiquinone binding GO:0048039 9.16 SDHB SDHD
3 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Cowden Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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